Hartnup Disease is a metabolic disorder affecting the absorption of neutral amino acids that make up the proteins in the intestines.The main amino acid that can not be absorbed in Hartnup Disease is Tryptophan. This is disease was first identified in the late 1950s in the Hartnup Family in London. When this disease occurs there is a defect in the kidneys and the intestines which makes it difficult to break down and absorb proteins within the diet. The disease also occurs in about one in every 26,000 births. Hartnup Disease is an inborn error of metabolism, and is passed genetically within families.
Hartnup Disease: Tryptophan
Symptoms:
Most people with this disease do not have any symptoms at all, only 10%-20% of people have occurring symptoms. The most occurring symptom is a red scaly rash that worsens when it is exposed to sunlight.Other symptoms are headache, fainting, diarrhea, mental retardation, cerebral ataxia, and delirium. The severeness of the disease depends on the environment, the diet, and the genetic traits controlling the amino acid levels. The severeness lessens as the person get older.
Treatment:
To treat this disease a Niacin Vitamin is given. The vitamin is usually given in a 40-200 mg dosage per day. Once this disease is treated the patient can usually live a healthy life with little attacks. Eating healthy with a high protein diet can also stop the attacks from occuring.
Molecular Basis:
Hartnup disease on the molecular level is caused by a disturbance in the transport in the sodium of the neutral amino acids over the brush border of the small intestine and the proximal renal tubular epithelium.
Table of Contents
Hartnup Disease
By: Breanna and DeannaIntroduction:
Hartnup Disease is a metabolic disorder affecting the absorption of neutral amino acids that make up the proteins in the intestines.The main amino acid that can not be absorbed in Hartnup Disease is Tryptophan. This is disease was first identified in the late 1950s in the Hartnup Family in London. When this disease occurs there is a defect in the kidneys and the intestines which makes it difficult to break down and absorb proteins within the diet. The disease also occurs in about one in every 26,000 births. Hartnup Disease is an inborn error of metabolism, and is passed genetically within families.Symptoms:
Most people with this disease do not have any symptoms at all, only 10%-20% of people have occurring symptoms. The most occurring symptom is a red scaly rash that worsens when it is exposed to sunlight.Other symptoms are headache, fainting, diarrhea, mental retardation, cerebral ataxia, and delirium. The severeness of the disease depends on the environment, the diet, and the genetic traits controlling the amino acid levels. The severeness lessens as the person get older.Treatment:
To treat this disease a Niacin Vitamin is given. The vitamin is usually given in a 40-200 mg dosage per day. Once this disease is treated the patient can usually live a healthy life with little attacks. Eating healthy with a high protein diet can also stop the attacks from occuring.Molecular Basis:
Hartnup disease on the molecular level is caused by a disturbance in the transport in the sodium of the neutral amino acids over the brush border of the small intestine and the proximal renal tubular epithelium.Resources
Introduction and Symtomshttp://www.healthatoz.com/healthatoz/Atoz/common/standard/transform.jsp?requestURI=/healthatoz/Atoz/ency/hartnup_disease.jsp
Introduction
http://en.wikipedia.org/wiki/Hartnup_disease
Molecular Basis
http://books.google.com/books?id=gnjMX_jtvYoC&pg=PA54&lpg=PA54&dq=hartnup+disease+on+the+molecular+level&source=bl&ots=FKmjiWhvC_&sig=XVObvBOHfmzZ6WdbzNVa5RY_y-E&hl=en&sa=X&oi=book_result&resnum=7&ct=result